Large1 LARGE xylosyl- and glucuronyltransferase 1 [ Mus musculus (house mouse) ]

Gene ID: 16795, updated on 9-Dec-2024

Summary

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Official Symbol: Large1provided by MGI
Official Full Name: LARGE xylosyl- and glucuronyltransferase 1provided by MGI
Primary source: MGI:MGI:1342270
See related: Ensembl:ENSMUSG00000004383 AllianceGenome:MGI:1342270
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: fg; enr; myd; Mbp1; Large; Mbp-1; froggy; BPFD#36; Gyltl1a
Summary: Enables glucuronosyltransferase activity and xylosyltransferase activity. Involved in several processes, including muscle cell cellular homeostasis; protein O-linked mannosylation; and skeletal muscle tissue regeneration. Acts upstream of or within several processes, including nervous system development; retina development in camera-type eye; and striated muscle cell differentiation. Located in Golgi membrane. Part of protein-containing complex. Is active in Golgi apparatus; neuromuscular junction; and plasma membrane. Is expressed in central nervous system; dorsal root ganglion; and retina. Used to study facioscapulohumeral muscular dystrophy; muscular dystrophy-dystroglycanopathy type B1; and muscular dystrophy-dystroglycanopathy type B6. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A6 and muscular dystrophy-dystroglycanopathy type B6. Orthologous to human LARGE1 (LARGE xylosyl- and glucuronyltransferase 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in cortex adult (RPKM 16.0), frontal lobe adult (RPKM 14.9) and 24 other tissues See more
Orthologs: human all
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Genomic context

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See Large1 in Genome Data Viewer

Location:: 8 B3.3; 8 35.08 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (73541227..74080164, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (72814598..73353721, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on alpha-dystroglycan and prevents muscular dystrophy.
Title: N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on α-dystroglycan and prevents muscular dystrophy.
POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan.
Title: POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan.
These findings indicate that the fine-tuning of AMPA-R trafficking by LARGE at the Golgi is critical for hippocampus-dependent memory in the brain.
Title: LARGE, an intellectual disability-associated protein, regulates AMPA-type glutamate receptor trafficking and memory.
data suggest LARGE overexpression may only be deleterious under a forced regenerative context, such as that resulting from a reduction in FKRP: in the absence of such a defect we show that systemic expression of LARGE can indeed act therapeutically, and that even dramatic LARGE overexpression is well-tolerated in heart and skeletal muscle
Title: Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window?
A glucuronic acid beta1,4-xylose disaccharide synthesized by B4GAT1 acts as an acceptor primer that can be elongated by LARGE with the ligand-binding heteropolysaccharide.
Title: The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.
MBP1 inhibits Ab fibril formation in vitro and demonstrate the ability of MBP1 to reduce Ab pathology and improve behavioral performance.
Title: N-terminal region of myelin basic protein reduces fibrillar amyloid-β deposition in Tg-5xFAD mice.
The overexpression of LARGE aggravates muscular dystrophy by suppressing the muscle regeneration and this adverse effect is mediated via reduced expression of IGF-1.
Title: Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice.
Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of alpha-dystroglycan in cells and tissues.
Title: Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues.
The overexpression of LARGE leads to a shortened lifespan and worsening of the FKRP-MD phenotype
Title: The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.
blocking Large during muscle regeneration results in synthesis of dystroglycan with minimal LARGE-glycan repeats in association with less compact basement membrane, immature neuromuscular junctions, and dysfunctional muscle predisposed to dystrophy
Title: LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Associated conditions

Description	Tests
enervated GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)
Spontaneous (3) 1 citation
Transgenic (1) 1 citation

General gene information

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Markers

AJ006278 (e-PCR)
- UniSTS:159777

RH125345 (e-PCR)
- UniSTS:162167

Results_ER_8_29_95_1_17.seq (e-PCR)
- UniSTS:125581

DXS7708 (e-PCR)
- UniSTS:41897

D8Mit303 (e-PCR), detects polymorphism
- UniSTS:131517

D8Mit341 (e-PCR), detects polymorphism
- UniSTS:131555

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables glucuronosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucuronosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables glucuronosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glycosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glycosyltransferase activity	NAS Non-traceable Author Statement more info	PubMed
enables hexosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables hexosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables manganese ion binding	ISO Inferred from Sequence Orthology more info
enables manganese ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables xylosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables xylosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables xylosyltransferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within acetylcholine receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within astrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within basement membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within behavioral fear response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within brain development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular component organization	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within connective tissue development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within connective tissue development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within connective tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dentate gyrus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within gene expression	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycoprotein biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within glycoprotein biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycoprotein biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within glycoprotein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular protein transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within limb development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within localization of cell	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within long-term synaptic potentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within macrophage differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within macrophage differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal reproductive process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in muscle cell cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle organ development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within myelination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myotube differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within nerve development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular junction development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling posture	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuromuscular synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuromuscular synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within plasma membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within post-embryonic hindlimb morphogenesis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within post-translational protein modification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within potassium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within principal sensory nucleus of trigeminal nerve development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein O-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein O-linked mannosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked mannosylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein O-linked mannosylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein deglycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein glycosylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein glycosylation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein glycosylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein modification process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein modification process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein targeting to membrane	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein targeting to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within reactive gliosis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of kinase activity	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein binding	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of synaptic plasticity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to light stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to mechanical stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina layer formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina vasculature development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle fiber differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within skeletal muscle fiber differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle organ development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue regeneration	IDA Inferred from Direct Assay more info	PubMed
involved_in skeletal muscle tissue regeneration	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within striated muscle cell development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within striated muscle cell development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within striated muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within striated muscle contraction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within striated muscle contraction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within striated muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within synapse organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within synaptic assembly at neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within walking behavior	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within water transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi apparatus	IMP Inferred from Mutant Phenotype more info	PubMed
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: xylosyl- and glucuronyltransferase LARGE1

Names: acetylglucosaminyltransferase-like 1A; glycosyltransferase-like protein LARGE1; like-glycosyltransferase; myodystrophy

NP_001304320.1

EC 2.4.1.-

NP_001400977.1

EC 2.4.1.-

NP_001400978.1

EC 2.4.1.-

NP_034817.1

EC 2.4.1.-

XP_030099172.1

EC 2.4.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001317391.2 → NP_001304320.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC115798, AC157365, AC158562, AC171678, AC171917

Consensus CDS

CCDS22420.1

UniProtKB/Swiss-Prot

Q497S9, Q6P7U2, Q80TW0, Q9Z1M7

UniProtKB/TrEMBL

D9IG22, Q059X9

Related

ENSMUSP00000148336.2, ENSMUST00000212459.2

Conserved Domains (2) summary

cd06431
Location:138 → 417

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

pfam13896
Location:473 → 742

Glyco_transf_49; Glycosyl-transferase for dystroglycan
NM_001414048.1 → NP_001400977.1 xylosyl- and glucuronyltransferase LARGE1 isoform 2

Status: VALIDATED

Source sequence(s)

AC115798, AC157365, AC158562, AC171678, AC171917
NM_001414049.1 → NP_001400978.1 xylosyl- and glucuronyltransferase LARGE1 isoform 3

Status: VALIDATED

Source sequence(s)

AC115798, AC157365, AC158562
NM_010687.3 → NP_034817.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1

See identical proteins and their annotated locations for NP_034817.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC115798, AC157365, AC158562, AC171678, AC171917

Consensus CDS

CCDS22420.1

UniProtKB/Swiss-Prot

Q497S9, Q6P7U2, Q80TW0, Q9Z1M7

UniProtKB/TrEMBL

D9IG22, Q059X9

Related

ENSMUSP00000004497.10, ENSMUST00000004497.11

Conserved Domains (2) summary

cd06431
Location:138 → 417

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

pfam13896
Location:473 → 742

Glyco_transf_49; Glycosyl-transferase for dystroglycan

RNA

NR_182234.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC115798, AC157365, AC158562, AC171678, AC171917

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

73541227..74080164 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030243312.2 → XP_030099172.1 xylosyl- and glucuronyltransferase LARGE1 isoform X1

UniProtKB/TrEMBL

D9IG22

Conserved Domains (2) summary

cd06431
Location:35 → 314

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

pfam13896
Location:370 → 639

Glyco_transf_49; Glycosyl-transferase for dystroglycan